Retinal disorders
Gene: ATOH7
Comment on list classification: Multiple families with recessive vitreoretinopathy.Created: 17 Jun 2016, 2:11 p.m.
Phenotypes for gene: ATOH7 were changed from Persistent hyperplastic primary vitreous, autosomal recessive; multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus to Persistent hyperplastic primary vitreous, autosomal recessive, 221900; multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus
Source NHS GMS was added to ATOH7. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for ATOH7 were set to PMID: 22068589; PMID: 22068589; PMID: 26933893; PMID: 24689660; PMID: 24457358; PMID: 23802135 - not associated with optic nerve hypoplasia; PMID: 22645276 - report that variants in this gene cause autosomal recessive persistent hyperplasia of the primary vitreous "Our results strongly suggest that autosomal recessive persistent hyperplastic primary vitreous is caused by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment. The R65G allele, however, cannot explain the ONA phenotype. Our study firmly establishes ATOH7 as a retinal disease gene and provides a functional basis to analyze new coding variants"; PMID: 22584021; PMID: 21441919; PMID: 21398277; PMID: 21427129; PMID: 21307088; PMID: 20395239; PMID: 11889557
Publications for ATOH7 were set to PMID: 22068589; PMID: 22068589; PMID: 26933893; PMID: 24689660; PMID: 24457358; PMID: 23802135 - not associated with optic nerve hypoplasia; PMID: 22645276 - report that variants in this gene cause autosomal recessive persistent hyperplasia of the primary vitreous "Our results strongly suggest that autosomal recessive persistent hyperplastic primary vitreous is caused by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment. The R65G allele, however, cannot explain the ONA phenotype. Our study firmly establishes ATOH7 as a retinal disease gene and provides a functional basis to analyze new coding variants"; PMID: 22584021; PMID: 21441919; PMID: 21398277; PMID: 21427129; PMID: 21307088; PMID: 20395239
Publications for ATOH7 were set to PMID: 22068589; PMID: 22068589; PMID: 26933893; PMID: 24689660; PMID: 24457358
Publications for ATOH7 were set to PMID: 22068589; PMID: 22068589; PMID: 26933893; PMID: 24689660
Publications for ATOH7 were set to PMID: 22068589; PMID: 22068589; PMID: 26933893
Phenotypes for gene ATOH7 were set to Persistent hyperplastic primary vitreous, autosomal recessive; multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus
ATOH7 was added to Posterior segment abnormalitiespanel. Sources: Expert list
ATOH7 was created by ellenmcdonagh